Also known as Bromodomain and WD repeat-containing protein 1 (WD repeat-containing protein 9).WDR9: an ubiquitously expressed WD40 repeat protein that may be a transcriptional activator and be involved in chromatin remodeling. Interacts with SMARCA4. WD40 repeats are found in a number of eukaryotic proteins that coordinate multi-protein complex assemblies. WD40 proteins are implicated in many

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functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. Three alternatively spliced human isoforms have been described.

BRWD3: Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. A chromosomal aberration involving BRWD3 can be found in patients with B-cell chronic lymphocytic leukemia (B- CLL). Translocation t(X;11)(q21;q23) with ARHGAP20 does not result in fusion transcripts but disrupts both genes. Defects in BRWD3 are the cause of mental retarda

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tion X- linked type 93 (MRX93); also known as mental retardation X-linked with macrocephaly. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Mentally retarded individuals are at least twice as likely to have macrocephaly than are their intellectually normal peers. 5 isoforms of the human protein are produced by alternative splicing.